Table 1. Analytes with significant perturbations between in SLC13A5 deficient subjects and controls.
A. CSF | ||||||||
---|---|---|---|---|---|---|---|---|
COMPOUND | Pathway | A1 | A2 | B1 | Subject Avg | Control Avg | Fold Diff | FDR |
beta-hydroxyisovaleroylcarnitine | Amino Acid | 0.80 | 0.73 | 0.76 | 0.76 | −0.03 | 1.73 | 5.81E-17 |
S-1-pyrroline-5-carboxylate | 1.87 | 1.47 | 1.61 | 1.65 | 0.71 | 1.92 | 6.74E-03 | |
acisoga | −1.50 | −1.09 | −1.50 | −1.36 | −0.03 | 0.40 | 9.25E-03 | |
cystathionine | −0.14 | −0.14 | 0.22 | −0.02 | −0.93 | 1.88 | 9.25E-03 | |
N-acetylasparagine | 0.58 | 0.31 | 0.38 | 0.43 | −0.18 | 1.53 | 4.04E-02 | |
imidazole propionate | −0.01 | 0.00 | −0.01 | −0.01 | 0.66 | 0.63 | 4.18E-02 | |
erythronate | Carbohydrate | 0.65 | 0.41 | 0.55 | 0.53 | −0.10 | 1.55 | 4.18E-02 |
isocitrate | Energy | 1.22 | 1.21 | 1.21 | 1.21 | 0.22 | 1.99 | 3.56E-07 |
2-methylcitrate | 1.28 | 1.01 | 1.15 | 1.15 | −0.66 | 3.51 | 4.11E-07 | |
citrate | 0.64 | 0.71 | 0.92 | 0.76 | −0.84 | 3.03 | 2.42E-05 | |
aconitate | −0.20 | −0.14 | 0.13 | −0.07 | −1.23 | 2.23 | 3.03E-04 | |
malonate | Lipid | 0.41 | 0.52 | 0.46 | 0.46 | −1.01 | 2.77 | 5.81E-17 |
3-hydroxybutyrate (BHBA) | −2.51 | −2.79 | −2.94 | −2.75 | −0.68 | 0.24 | 9.28E-07 | |
1-arachidonoyl-GPE | −1.19 | −1.19 | −1.19 | −1.19 | −0.28 | 0.53 | 9.64E-06 | |
1,2-dioleoyl-GPC | 0.83 | 0.56 | 0.75 | 0.71 | −0.15 | 1.82 | 4.90E-04 | |
3-hydroxyoctanoate | −0.95 | −0.96 | −0.85 | −0.92 | −0.35 | 0.67 | 1.16E-03 | |
phosphocholine | −0.54 | −0.45 | −0.64 | −0.54 | −0.03 | 0.70 | 1.33E-03 | |
1-stearoyl-2-linoleoyl-GPC | 0.48 | 0.14 | 0.52 | 0.38 | −0.66 | 2.06 | 6.22E-03 | |
3-aminoisobutyrate | Nucleotide | −1.61 | −1.62 | −1.27 | −1.50 | −0.36 | 0.45 | 1.16E-03 |
N6-succinyladenosine | 1.65 | 1.11 | 1.48 | 1.41 | −0.23 | 3.12 | 4.96E-03 | |
succinimide | Xenobiotics | −1.72 | −1.71 | −1.73 | −1.72 | −0.24 | 0.36 | 3.94E-13 |
trizma acetate | 0.61 | 0.62 | 0.76 | 0.66 | −0.42 | 2.11 | 1.04E-03 | |
tartarate | 0.69 | 0.91 | 0.73 | 0.78 | 0.12 | 1.58 | 1.16E-03 | |
7-methylxanthine | −0.01 | −0.01 | 0.00 | −0.01 | 0.72 | 0.60 | 1.79E-02 | |
S-allylcysteine | −0.01 | −0.01 | −0.01 | −0.01 | 0.77 | 0.58 | 3.91E-02 |
B. Plasma | ||||||||||
---|---|---|---|---|---|---|---|---|---|---|
COMPOUND | Pathway | A1 | A2 | B1 | C1 | C2 | Subject Avg | Control Avg | Fold Diff | FDR |
pyroglutamine | Amino Acid | 1.84 | 1.93 | 1.67 | 1.01 | 2.06 | 1.7 | 0.24 | 0.53 | 0.006 |
N-6-trimethyllysine | −0.35 | −0.04 | −0.23 | −0.34 | −0.21 | −0.23 | 0.15 | 0.76 | 0.03 | |
eicosanodioate | Lipid | −1.32 | −0.76 | −1.21 | −0.34 | −1.22 | −1.34 | −0.26 | 0.53 | 0.003 |
citrate | TCA Cycle | 1.69 | 1.21 | 2.14 | 1.21 | 1.74 | 1.6 | −0.04 | 3.10 | 0.02 |
C. Urine | |||||||||
---|---|---|---|---|---|---|---|---|---|
COMPOUND | Pathway | A1 | A2 | B1 | C1 | Subject Avg | Control Avg | Fold Diff | FDR |
16a-hydroxy DHEA 3-sulfate | Steroid | 4.46 | N/D | 3.99 | 3.82 | 4.09 | 0.75 | 10.16 | 2.E-05 |
lactate | Pyruvate | −1.89 | −1.06 | −1.90 | −1.11 | −1.49 | 0.27 | 0.29 | 0.04 |
fumarate | TCA Cycle | −1.68 | −1.69 | −2.83 | −1.57 | −1.94 | 0.13 | 0.23 | 0.05 |
N/D: Not detected